Canonical Allele Identifier: CA349464893

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454043C>A (hg19) ; chr2:g.178589316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589316C>A , CM000664.2:g.178589316C>A	GRCh38
NC_000002.11:g.179454043C>A , CM000664.1:g.179454043C>A	GRCh37
NC_000002.10:g.179162289C>A	NCBI36
NG_011618.3:g.246487G>T , LRG_391:g.246487G>T
NG_051363.1:g.71490C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54705G>T (TTN)	ENSP00000343764.6:p.Trp18235Cys
ENST00000342175.11:c.35790G>T (TTN)	ENSP00000340554.6:p.Trp11930Cys
ENST00000359218.10:c.35589G>T (TTN)	ENSP00000352154.5:p.Trp11863Cys
ENST00000342175.10:c.35790G>T (TTN)	ENSP00000340554.6:p.Trp11930Cys
ENST00000342992.10:c.54705G>T (TTN)	ENSP00000343764.6:p.Trp18235Cys
ENST00000359218.9:c.35589G>T (TTN)	ENSP00000352154.5:p.Trp11863Cys
ENST00000460472.6:c.35214G>T (TTN)	ENSP00000434586.1:p.Trp11738Cys
ENST00000589042.5:c.62409G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp20803Cys
ENST00000591111.5:c.57486G>T (TTN)	ENSP00000465570.1:p.Trp19162Cys
ENST00000615779.4:c.57486G>T (TTN)	ENSP00000483597.1:p.Trp19162Cys
NM_001256850.1:c.57486G>T (TTN)	NP_001243779.1:p.Trp19162Cys
NM_001267550.2:c.62409G>T (TTN) MANE Select	NP_001254479.2:p.Trp20803Cys
NM_003319.4:c.35214G>T (TTN)	NP_003310.4:p.Trp11738Cys
NM_133378.4:c.54705G>T (TTN)	NP_596869.4:p.Trp18235Cys
NM_133432.3:c.35589G>T (TTN)	NP_597676.3:p.Trp11863Cys
NM_133437.4:c.35790G>T (TTN)	NP_597681.4:p.Trp11930Cys
NR_038271.1:n.597-8280C>A (TTN-AS1)
NR_038272.1:n.3189-1823C>A (TTN-AS1)
XM_011511729.1:c.61506G>T (TTN)	XP_011510031.1:p.Trp20502Cys
XM_011511730.1:c.35400G>T (TTN)	XP_011510032.1:p.Trp11800Cys
XM_011511731.1:c.35259G>T (TTN)	XP_011510033.1:p.Trp11753Cys
XM_017004819.1:c.61302G>T (TTN)	XP_016860308.1:p.Trp20434Cys
XM_017004820.1:c.56700G>T (TTN)	XP_016860309.1:p.Trp18900Cys
XM_017004821.1:c.56697G>T (TTN)	XP_016860310.1:p.Trp18899Cys
XM_017004822.1:c.53739G>T (TTN)	XP_016860311.1:p.Trp17913Cys
XM_017004823.1:c.35355G>T (TTN)	XP_016860312.1:p.Trp11785Cys
XM_024453094.1:c.56850G>T (TTN)	XP_024308862.1:p.Trp18950Cys
XM_024453095.1:c.56847G>T (TTN)	XP_024308863.1:p.Trp18949Cys
XM_024453096.1:c.56280G>T (TTN)	XP_024308864.1:p.Trp18760Cys
XM_024453097.1:c.53622G>T (TTN)	XP_024308865.1:p.Trp17874Cys
XM_024453098.1:c.53541G>T (TTN)	XP_024308866.1:p.Trp17847Cys
XM_024453099.1:c.35304G>T (TTN)	XP_024308867.1:p.Trp11768Cys
XM_024453100.1:c.25158G>T (TTN)	XP_024308868.1:p.Trp8386Cys